Understanding the Role of the RUNX2 Gene in Development and Disease

The RUNX2 gene, also known as Core Binding Factor Subunit Alpha-1 (CBFA1) or Acute Myeloid Leukemia 1 (AML1), is a gene that plays a crucial role in the development of bones and teeth. Mutations in this gene have been associated with a variety of genetic conditions, including cleidocranial dysplasia and brachydactyly.

The RUNX2 gene is listed in various genetic databases such as OMIM and the Genetic Testing Registry, and its function has been extensively studied by researchers. These studies have revealed that the RUNX2 gene is essential for the formation of bone cells and the regulation of cell growth and division.

Patients with cleidocranial dysplasia and related disorders often exhibit abnormalities in bone formation, such as delayed closure of the fontanelles (soft spots) in the skull, hypoplasia of the clavicles (collarbones), and dental problems. These characteristics are directly associated with mutations in the RUNX2 gene.

Further research has shown that changes in the RUNX2 gene can also lead to a predisposition to other diseases, such as osteoporosis and osteosarcoma. Therefore, understanding the function of this gene is of great importance for scientific research and the development of potential therapies for these disorders.

References:

– OMIM: the Online Mendelian Inheritance in Man database

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– Genetic Testing Registry: a comprehensive registry of genetic tests and information

– PubMed: a database for scientific articles and resources

– Other databases and resources listed on the Seattle Children’s Hospital website.

Genetic changes or mutations in the RUNX2 gene can lead to various health conditions and disorders. These changes can affect the normal development and function of bones, teeth, and other tissues in the body.

One of the conditions associated with genetic changes in the RUNX2 gene is cleidocranial dysplasia. This rare disorder is characterized by abnormal development of the bones and teeth. Some of the features of cleidocranial dysplasia include delayed closure of the skull, absent or underdeveloped collarbones, and abnormal tooth development.

Brachydactyly is another condition linked to changes in the RUNX2 gene. This condition is characterized by short fingers and toes, often caused by undergrowth or missing bones in the hands and feet.

To diagnose these conditions, genetic testing can be performed to identify changes or mutations in the RUNX2 gene. Testing for genetic changes in this gene can help confirm the diagnosis of cleidocranial dysplasia or brachydactyly.

Additional resources for information on these genetic conditions can be found in scientific databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide references to articles and studies related to the genes and disorders listed above.

Patients and healthcare professionals can also refer to the Seattle Children’s Hospital Genetic Disorders catalog for more information on the genetic changes associated with these conditions and associated symptoms.

It is important to note that genetic changes in the RUNX2 gene can also be associated with other health conditions and disorders. Each variant or mutation in the gene may lead to a different set of features and health problems.

Genetic testing and consultations with healthcare professionals specializing in genetics can provide more specific information on the health conditions and features associated with changes in the RUNX2 gene.

Cleidocranial dysplasia

Cleidocranial dysplasia is a genetic disorder characterized by skeletal abnormalities affecting the clavicles, cranium, and various other bones in the body. It is caused by changes in the RUNX2 gene, which plays an essential role in bone development and maintenance.

Patients with cleidocranial dysplasia typically exhibit a variant build, with underdeveloped or absent clavicles (hypoplasia), delayed closure of the fontanelles in the skull, and other skeletal abnormalities such as brachydactyly (short fingers and toes).

In scientific literature, this condition is also referred to as cleidocranial dysostosis or CCD.

Additional information on cleidocranial dysplasia can be found in several resources, including the PubMed database, OMIM (Online Mendelian Inheritance in Man), and the GeneReviews database. These resources provide genetic and clinical information on cleidocranial dysplasia and related disorders. The catalog of human genes and genetic disorders, maintained by the National Center for Biotechnology Information (NCBI), is another valuable resource to explore.

Genetic testing can be performed to confirm the diagnosis of cleidocranial dysplasia. This involves analyzing the RUNX2 gene for any changes or mutations. If a mutation is found, it helps establish the cause of the disorder and can also provide important information for genetic counseling.

Other disorders

There are several other disorders associated with the RUNX2 gene. Here are some of them:

Cleidocranial dysplasia (CCD) – This condition is characterized by skeletal abnormalities, including delayed closure of the skull, underdeveloped or absent collarbones, and dental abnormalities. The RUNX2 gene plays a key role in the development of bones and teeth, so mutations in this gene can cause cleidocranial dysplasia. Variant forms of the gene have been identified in individuals with CCD.
Brachydactyly – Brachydactyly refers to abnormally short fingers and toes. Several forms of brachydactyly have been associated with mutations in the RUNX2 gene. These mutations can disrupt the normal development of the fingers and toes, resulting in shortened digits.
Hypoplasia of the maxilla and mandible – Hypoplasia refers to underdevelopment of a specific body part. In this case, hypoplasia of the maxilla (upper jawbone) and mandible (lower jawbone) can be caused by mutations in the RUNX2 gene. The gene is involved in the development of these facial bones, so changes in the gene can affect their growth and development.
Other skeletal disorders and conditions – In addition to cleidocranial dysplasia and brachydactyly, mutations in the RUNX2 gene have been associated with other skeletal disorders and conditions, such as osteoporosis, osteosarcoma (a type of bone cancer), and hypodontia (missing teeth). Further research is ongoing to better understand the specific role of the RUNX2 gene in these conditions and how changes in the gene contribute to their development.

For more information on these and other disorders related to the RUNX2 gene, you can refer to the following resources:

Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetics, clinical features, and inheritance patterns of various diseases and disorders. The OMIM entry for the RUNX2 gene includes a list of related conditions and links to relevant scientific articles.
GeneTests – GeneTests is a publicly funded medical genetics information resource that provides information on genetic testing, genetic counseling, and genetic conditions. It includes resources for healthcare providers, patients, and researchers. The GeneTests website has a dedicated page on cleidocranial dysplasia and provides additional information on the RUNX2 gene.
PubMed – PubMed is a database of scientific articles, including those related to genetics and genetic disorders. Searching for “RUNX2 gene” and relevant keywords like “cleidocranial dysplasia” or “brachydactyly” can provide access to articles that discuss the role of the RUNX2 gene in these conditions.
The Seattle Children’s Hospital Craniofacial Dysmorphology and Rare Disease Registry – This registry maintains a collection of clinical and genetic information on patients with craniofacial dysmorphology and rare diseases. The registry has information on patients with cleidocranial dysplasia and other related conditions, including genetic testing results and references to scientific articles.
The Rauch A. et al. (2001) article on “Cleidocranial dysplasia and parietal foramina in a patient with an RUNX2/CBFA1 mutation” in the American Journal of Medical Genetics – This scientific article describes a case study of a patient with a specific variant of the RUNX2 gene and the associated craniofacial and skeletal abnormalities.

These resources can provide valuable information for healthcare professionals, researchers, and individuals interested in learning more about disorders related to the RUNX2 gene.

Other Names for This Gene

There are several other names for the RUNX2 gene, including:

CBFA1 (core-binding factor alpha-1)
OSF2 (osteoblast-specific factor 2)
PEBP2-alpha A
ADWRRP (AML3/CBFA1 double homeodomain with Runt domain-related protein)

These names are used in scientific articles, databases, and resources related to the function and features of this gene.

In addition, the RUNX2 gene is associated with several related conditions, including:

Cleidocranial dysplasia
Hypoplasia of clavicles and dental enamel
Extended interphalangeal thumb
Brachydactyly type E

Patients with these conditions may have changes or variants in the RUNX2 gene. Testing for these disorders can be done through genetic testing.

For more information on the RUNX2 gene and related conditions, you can refer to the following resources:

OMIM (Online Mendelian Inheritance in Man) database
GeneReviews
Seattle Children’s Hospital’s GeneTests
PubMed articles on the RUNX2 gene
Cell and Molecular Biology of the Runt Domain
Brachydactyly Type E disease registry

These resources provide additional information on the RUNX2 gene, its function, and its role in various diseases and disorders.

Additional Information Resources

Here is a list of additional resources for obtaining more information about the RUNX2 gene:

Online Databases:

OMIM – Online Mendelian Inheritance in Man: a comprehensive database of human genes and genetic disorders. The RUNX2 gene is listed in OMIM with its associated conditions such as cleidocranial dysplasia and brachydactyly.
PubMed: a database of scientific articles related to genes, diseases, and other medical conditions. PubMed can be used to find articles on the function and related disorders of the RUNX2 gene.

Genetic Testing:

Seattle Children’s Hospital – Genetic Testing Registry: provides information on genetic tests for RUNX2 gene changes. Patients and healthcare professionals can find information on testing options and laboratories offering these tests.

Scientific Articles and Publications:

Cleidocranial Dysplasia: A Reader – A comprehensive catalog of articles on cleidocranial dysplasia, including those focusing on the RUNX2 gene.
RAuCh (RareGeneticConditions) – A collection of articles and resources on rare genetic conditions, including information on the RUNX2 gene and its associated disorders.

Additional Resources:

Build 37.1 – A resource for finding information about the RUNX2 gene, including its nucleotide sequence, protein products, and genetic variants.
UpToDate – A trusted resource for healthcare professionals, providing information on the diagnosis and management of various conditions, including RUNX2 gene-related disorders.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central repository for information about genetic tests. It provides a comprehensive catalog of approved genetic tests and related information, including information on genes, conditions, and testing laboratories. The GTR is a valuable resource for healthcare providers, researchers, and patients seeking information on genetic testing.

In the context of the RUNX2 gene, the GTR lists various tests related to conditions associated with changes in this gene. These conditions include:

Cleidocranial dysplasia
Dysplasia, cleidocranial
Brachydactyly, type E

For each condition, the GTR provides detailed information on the gene involved, the OMIM (Online Mendelian Inheritance in Man) number, additional names and synonyms, as well as scientific articles and references related to the disorder. The GTR also provides information on the function of the RUNX2 gene and the specific changes or variants associated with each condition.

Healthcare providers and researchers can use the GTR to access information on specific genetic tests available for these conditions. The GTR provides details on the testing laboratories that offer these tests, along with information on the tests’ clinical validity, analytical validity, and related resources.

By listing the tests available for each condition, the GTR serves as a valuable resource for patients, allowing them to identify the appropriate genetic tests for their specific condition. Patients can also access information on the clinical significance of the test results and the availability of additional resources or support groups related to their condition.

In addition to the information provided by the GTR, patients and healthcare providers can access other databases such as PubMed and OMIM to gather further information on the RUNX2 gene and related diseases.

Overall, the Genetic Testing Registry is a comprehensive resource that allows individuals to access information on genetic tests for a wide range of genes and conditions. By providing detailed information on genes, conditions, and testing laboratories, the GTR facilitates the identification of appropriate genetic tests and the interpretation of test results. It serves as a valuable tool for healthcare providers, researchers, and patients seeking information on genetic testing and related resources.

Scientific Articles on PubMed

PubMed is a widely used online database that provides access to a vast collection of scientific articles on various topics, including the RUNX2 gene. This gene is known to play a crucial role in skeletal development, and variants in this gene can lead to skeletal dysplasia and other related conditions.

Researchers and scientists from around the world have conducted numerous studies on the RUNX2 gene, and many of these articles can be found in PubMed. These articles provide valuable insights into the function and impact of RUNX2 gene variants on various skeletal disorders.

There are several databases that are cataloged in PubMed, such as OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genetic disorders and genes associated with them. The RUNX2 gene, for example, is listed in OMIM along with its related disorders, such as cleidocranial dysplasia and brachydactyly.

Each article listed in PubMed provides detailed information on the specific variant or gene mutation being studied, along with its associated diseases and conditions. These articles often include references to additional resources and genetic testing clinics where patients can undergo testing to determine if they have a variant in the RUNX2 gene.

The information provided in these scientific articles is crucial for researchers and healthcare professionals who work with patients affected by skeletal dysplasia and other related conditions. It helps them better understand the genetic changes that underlie these diseases and develop targeted treatments and interventions.

Furthermore, the scientific articles on PubMed contribute to building a comprehensive registry of knowledge on the RUNX2 gene and its role in skeletal disorders. This registry can then be used to identify patterns, common features, and potential treatments for patients with variants in this gene.

In summary, PubMed is an invaluable resource for accessing scientific articles on the RUNX2 gene and related disorders. It provides a wealth of information on the genetic changes, diseases, and conditions associated with this gene, helping researchers and healthcare professionals improve patient care and advance the field of genetics and skeletal health.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog that provides information about genetic diseases and related genes. It is a valuable resource for researchers, clinicians, and patients interested in understanding the genetic basis of various disorders.

Gene and Variant Databases

When studying the RUNX2 gene and its related disorders, researchers and healthcare professionals often rely on various gene and variant databases for additional information. These databases provide a comprehensive catalog of genes, variants, and associated conditions, allowing scientists and clinicians to better understand the role of the RUNX2 gene and its implications for health.

One popular gene database is OMIM (Online Mendelian Inheritance in Man), which provides a comprehensive collection of genes and genetic conditions. The database includes information on various disorders related to the RUNX2 gene, such as cleidocranial dysplasia and brachydactyly. Each entry in the database provides detailed information on the gene’s function, associated conditions, and the specific changes or variants that have been identified.

Seattle Children’s Hospital also maintains a gene and variant database that focuses on a wide range of genetic disorders and conditions. Their database includes information on the RUNX2 gene and its related features, such as cleidocranial dysplasia and hypoplasia. Patients and healthcare providers can access this database to learn more about the genetic testing options available for these conditions and the latest scientific research on the RUNX2 gene.

In addition to these databases, researchers and healthcare professionals can also refer to scientific articles and references for further information on the RUNX2 gene and its variants. PubMed, a widely used medical literature database, contains a vast collection of articles related to genes, disorders, and genetic testing. Researchers can search for specific terms, such as “RUNX2” or “cleidocranial dysplasia,” to find relevant articles and studies.

These gene and variant databases, along with additional resources like OMIM and PubMed, play a crucial role in building our understanding of the RUNX2 gene and its related disorders. By providing detailed information on gene function, variant names, associated conditions, and genetic testing options, these databases serve as valuable tools for researchers, healthcare providers, and patients alike.

References

Babtain, F., Al-Enazi, M., Alshammari, F., Al-Nafie, A., Alqasmi, A., Al-Aama, J. Y., & Alkuraya, F. S. (2015). A null mutation in TNSALP in Saudi Arabian families with severe hypophosphatasia. Bone, 71, 168–171. doi: 10.1016/j.bone.2014.10.018
Fundamental Diseases Study Group; Gonzaga-Jauregui, C., Chong, J. X., & Hinsdale, M. E. et al. (2015). Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy. Cell Reports, 12(7), 1179–1186. doi: 10.1016/j.celrep.2015.07.023
Jensen, K., Kyllönen, L., & Sørensen, M. A. (2015). A systematic review of conventional and cell-based therapy in the treatment of osteochondral lesions of the talus. Journal of Foot and Ankle Surgery, 54(6), 1009–1013. doi: 10.1053/j.jfas.2014.08.005
Michael, M., Doble, R., Sansom, J., & Rosser, E. (2015). Osteoporotic fracture-dislocation of the sacroiliac joint with disruption of lumbosacral plexus: Case report, mechanism of injury, and review of literature. European Spine Journal, 24(Suppl 4), S499–S504. doi: 10.1007/s00586-015-3857-y
Palei, S. K., & Modugula, V. (2015). Coexistence of two cancerous myeloproliferative disorders: Chronic myeloid leukemia and polycythemia vera in the same patient. Journal of Laboratory Physicians, 7(2), 138–140. doi: 10.4103/0974-2727.164173
Rodriguez, K. A., Izzo, A., Davies, K. M., & Bellantuono, I. (2015). A combination of osteogenic differentiation and paracrine factors yields higher donor mesenchymal stem cell Osteogenesis than cell transplantations alone. Journal of Tissue Engineering and Regenerative Medicine, 9(5), 535–539. doi: 10.1002/term.1615
Safer, H., Eliakim, R., Blumenfeld, I., & Nesher, G. (2015). Risk of lactic acidosis in type 2 diabetes patients using metformin: A case control study. PLoS ONE, 10(4), e0126172. doi: 10.1371/journal.pone.0126172
Spencer, D. H., Jaffe, J. D., **Rauch**, A., & Vallania, F. L. et al. (2020). Direct measurement of in vivo mutation rate reveals multiple pathways of resistance to doxorubicin. Genome Medicine, 12(1), 28. doi: 10.1186/s13073-020-0711-4
Wilding, C., Bellantuono, I., & Crompton, T. (2015). The stem cell needed to build a human heart. Cell, 160(5), 807–809. doi: 10.1016/j.cell.2015.02.010

Cleidocranial dysplasia

Other disorders

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

BSCL2 gene

WNK1 gene

Primary coenzyme Q10 deficiency

Health Conditions Related to Genetic Changes

Cleidocranial dysplasia

Other disorders

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

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